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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.
Term:torsion dystonia 2
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Accession:DOID:0090038 term browser browse the term
Definition:A dystonia that initially involves the distal limbs and later involves the neck, orofacial, and craniocervical regions, and has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the hippocalcin (HPCA) gene on chromosome 1p35. (DO)
Synonyms:exact_synonym: DYT2;   dystonia musculorum deformans 2;   dystonia musculorum deformans type 2;   torsion dystonia 2, autosomal recessive;   torsion dystonia 2, autosomal recessive type
 primary_id: MESH:C538006
 alt_id: OMIM:224500
 xref: NCI:C123415;   ORDO:99657


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torsion dystonia 2 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hpca hippocalcin ISO ClinVar Annotator: match by term: Torsion dystonia 2 OMIM
ClinVar		 PMID:6115727 PMID:14694054 PMID:25799108 PMID:28492532 NCBI chr 5:141,455,616...141,466,252
Ensembl chr 5:141,455,613...141,463,841 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21086
    Developmental Disease 18380
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 18236
        genetic disease 18173
          Nervous System Heredodegenerative Disorders 3205
            Dystonia Musculorum Deformans 21
              torsion dystonia 2 1
Path 2
Term Annotations click to browse term
  disease 21086
    disease of anatomical entity 18146
      nervous system disease 13993
        central nervous system disease 12287
          brain disease 11534
            movement disease 2554
              Dyskinesias 2169
                dystonia 433
                  generalized dystonia 25
                    Dystonia Musculorum Deformans 21
                      torsion dystonia 2 1
paths to the root